International Patient Registry and Natural History Study for Neurodegeneration with Brain Iron Accumulation NBIA Disorders

What this Trial Is About

Researchers are conducting an international patient registry and natural history study for Neurodegeneration Associated with Brain Iron Accumulation NBIA disorders. The study aims to combine and harmonize existing national and single-site registries, include countries and sites without prior access to NBIA registries, and recruit enough patients to better understand NBIAs natural history, identify suitable outcome measures, and support future clinical trials. The study collects yearly data through a web-based registry, with more frequent six-month assessments for rapidly progressing cases. It uses various scales to assess disease stage and progression, including the Barry Albright Dystonia scale, Unified Parkinson Disease Rating Scale UPDRS, Patients Global Impression of Improvement PGII, and quality-of-life scores. Patients with suspected or confirmed NBIA are eligible to participate after giving informed consent. During the study, participants undergo regular yearly assessments for up to 30 years or until discontinuation or death. These assessments track changes in dystonia severity, Parkinsons symptoms, pediatric quality of life, and disease progression. Data collection helps define disease progression patterns and informs clinical trial design. The registry is maintained through donations and industry support to ensure long-term data availability.

TIRCON International NBIA Registry